Hsiao KJ - Search Results

1

Absence of FMR-1 gene expression can be detected with RNA extracted from dried blood specimens.

Pai JT, Tsai SF, Horng CJ, Chiu PC, Cheng MY, Hsiao KJ, Wuu KD. Pai JT, et al. Among authors: hsiao kj. Hum Genet. 1994 May;93(5):488-93. doi: 10.1007/BF00202810. Hum Genet. 1994. PMID: 7513295

2

Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency.

Lu YB, Kobayashi K, Ushikai M, Tabata A, Iijima M, Li MX, Lei L, Kawabe K, Taura S, Yang Y, Liu TT, Chiang SH, Hsiao KJ, Lau YL, Tsui LC, Lee DH, Saheki T. Lu YB, et al. Among authors: hsiao kj. J Hum Genet. 2005;50(7):338-346. doi: 10.1007/s10038-005-0262-8. Epub 2005 Jul 30. J Hum Genet. 2005. PMID: 16059747

3

Identification of more than 500 RFLPs by screening random genomic clones.

Schumm JW, Knowlton RG, Braman JC, Barker DF, Botstein D, Akots G, Brown VA, Gravius TC, Helms C, Hsiao K, et al. Schumm JW, et al. Am J Hum Genet. 1988 Jan;42(1):143-59. Am J Hum Genet. 1988. PMID: 2892396 Free PMC article.

4

Two frequent mutations associated with the classic form of propionic acidemia in Taiwan.

Chiu YH, Liu YN, Liao WL, Chang YC, Lin SP, Hsu CC, Chiu PC, Niu DM, Wang CH, Ke YY, Chien YH, Hsiao KJ, Liu TT. Chiu YH, et al. Among authors: hsiao kj. Biochem Genet. 2014 Oct;52(9-10):415-29. doi: 10.1007/s10528-014-9657-6. Epub 2014 May 27. Biochem Genet. 2014. PMID: 24863100

5

The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population.

Liang Y, Huang MZ, Cheng CY, Chao HK, Fwu VT, Chiang SH, Hsiao KJ, Niu DM, Su TS. Liang Y, et al. Among authors: hsiao kj. J Hum Genet. 2014 Mar;59(3):145-52. doi: 10.1038/jhg.2013.136. Epub 2014 Jan 9. J Hum Genet. 2014. PMID: 24401910

6

Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.

Chiu YH, Chang YC, Chang YH, Niu DM, Yang YL, Ye J, Jiang J, Okano Y, Lee DH, Pangkanon S, Kuptanon C, Hock NL, Chiong MA, Cavan BV, Hsiao KJ, Liu TT. Chiu YH, et al. Among authors: hsiao kj. J Hum Genet. 2012 Feb;57(2):145-52. doi: 10.1038/jhg.2011.146. Epub 2012 Jan 12. J Hum Genet. 2012. PMID: 22237589

7

Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.

Liu MY, Yang YL, Chang YC, Chiang SH, Lin SP, Han LS, Qi Y, Hsiao KJ, Liu TT. Liu MY, et al. Among authors: hsiao kj. J Hum Genet. 2010 Sep;55(9):621-6. doi: 10.1038/jhg.2010.81. Epub 2010 Jul 15. J Hum Genet. 2010. PMID: 20631720

8

Novel mutations of the OPA1 gene in Chinese dominant optic atrophy.

Yen MY, Wang AG, Lin YC, Fann MJ, Hsiao KJ. Yen MY, et al. Among authors: hsiao kj. Ophthalmology. 2010 Feb;117(2):392-6.e1. doi: 10.1016/j.ophtha.2009.07.019. Epub 2009 Dec 6. Ophthalmology. 2010. PMID: 19969356

9

Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency.

Lee NC, Cheng LY, Liu TT, Hsiao KJ, Chiu PC, Niu DM. Lee NC, et al. Among authors: hsiao kj. Mol Genet Metab. 2006 Feb;87(2):128-34. doi: 10.1016/j.ymgme.2005.09.028. Epub 2005 Dec 20. Mol Genet Metab. 2006. PMID: 16364672

10

Autosomal dominant avascular necrosis of femoral head in two Taiwanese pedigrees and linkage to chromosome 12q13.

Chen WM, Liu YF, Lin MW, Chen IC, Lin PY, Lin GL, Jou YS, Lin YT, Fann CS, Wu JY, Hsiao KJ, Tsai SF. Chen WM, et al. Among authors: hsiao kj. Am J Hum Genet. 2004 Aug;75(2):310-7. doi: 10.1086/422702. Epub 2004 Jun 3. Am J Hum Genet. 2004. PMID: 15179599 Free PMC article.

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